{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:13:15Z","timestamp":1753891995584,"version":"3.41.2"},"reference-count":18,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,11,22]],"date-time":"2022-11-22T00:00:00Z","timestamp":1669075200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81772553"],"award-info":[{"award-number":["81772553"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:p>Double <jats:italic>JAK2<\/jats:italic> mutations have rarely been described in myeloproliferative neoplasms (MPNs) and are demonstrated to be associated with the polycythemia vera (PV) phenotype. Here, we first report a case of a PV patient with a <jats:italic><jats:italic>de novo<\/jats:italic><\/jats:italic> double L611S\/V617L <jats:italic><jats:italic>in cis<\/jats:italic><\/jats:italic> mutation of <jats:italic>JAK2<\/jats:italic>. A 40-year-old woman was admitted to the hospital with massive splenomegaly, multiple splenic infarcts, and abdominal pain. She had a 4-year history of erythrocytosis with an antecedent 10-year history of thrombocytosis before coming to our hospital. She was diagnosed with <jats:italic>JAK2<\/jats:italic> L611S\/V617L double-mutant PV after a detailed medical examination in 2017. According to the literature, IFN\u03b1 therapy can induce clinical, hematological, histopathological, and occasionally molecular remission in individuals with MPNs. Our report demonstrates that combination therapy with ruxolitinib and IFN\u03b1 can lead to a substantial reduction in <jats:italic>JAK2<\/jats:italic> L611S\/V617L double-mutant allele burden.<\/jats:p>","DOI":"10.3389\/fonc.2022.937362","type":"journal-article","created":{"date-parts":[[2022,11,22]],"date-time":"2022-11-22T07:51:26Z","timestamp":1669103486000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case report: Double L611S\/V617L JAK2 mutation in a patient with polycythemia vera originally diagnosed with essential thrombocythemia"],"prefix":"10.3389","volume":"12","author":[{"given":"Xiao-qing","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia-jun","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheng-cheng","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,11,22]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2010.23","article-title":"JAK2 mutation and disease phenotype: A double L611V\/V617F in cis mutation of JAK2 is associated with isolated erythrocytosis and increased activation of AKT and ERK1\/2 rather than STAT5","volume":"24","author":"Cleyrat","year":"2010","journal-title":"Leukemia"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.3109\/10428194.2012.697562","article-title":"Detection of JAK2 mutations in 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